Canonical Allele Identifier: CA356174663

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301111T>C , CM000666.2:g.6301111T>C	GRCh38
NC_000004.11:g.6302838T>C , CM000666.1:g.6302838T>C	GRCh37
NC_000004.10:g.6353739T>C	NCBI36
NG_011700.1:g.36262T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1316T>C MANE Select	NP_005996.2:p.Phe439Ser
ENST00000226760.5:c.1316T>C MANE Select	ENSP00000226760.1:p.Phe439Ser
NM_001145853.1:c.1316T>C	NP_001139325.1:p.Phe439Ser
ENST00000503569.5:c.1316T>C	ENSP00000423337.1:p.Phe439Ser
ENST00000506362.2:c.1067T>C	ENSP00000424103.2:p.Phe356Ser
ENST00000507765.1:n.1501T>C
ENST00000673642.1:c.975T>C	ENSP00000501242.1:p.Leu325=
ENST00000673991.1:c.1352T>C	ENSP00000501033.1:p.Phe451Ser
ENST00000682275.1:c.1352T>C	ENSP00000507852.1:p.Phe451Ser
ENST00000683395.1:c.1293T>C
ENST00000684087.1:c.1316T>C	ENSP00000506978.1:p.Phe439Ser
XM_017008586.1:c.1325T>C	XP_016864075.1:p.Phe442Ser